BreakDancer - Identification of Genomic Structural Variation from Paired-End Read Mapping.

BreakDancer - Identification of Genomic Structural Variation from Paired-End Read Mapping. Curr Protoc Bioinformatics. 2014;2014 Authors: Fan X, Abbott TE, Larson D, Chen K Abstract The advent of the next-generation sequencing data has made it possible to cost-effectively detect and characterize genomic variation in human genomes. Structural variation, including deletion, duplication, insertion, inversion and translocation, is of great importance to human genetics due to its association with many genetic diseases. BreakDancer is a bioinformatics tool that relates paired-end read alignments from a test genome to the reference genome for the purpose of comprehensively and accurately detecting various types of structural variation. PMID: 25152801 [PubMed - as supplied by publisher]
Source: Current Protocols in Bioinformatics - Category: Bioinformatics Tags: Curr Protoc Bioinformatics Source Type: research